Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000596700 | SCV000704440 | pathogenic | not provided | 2016-12-19 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000669270 | SCV000794007 | likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 2017-09-06 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001384062 | SCV001583439 | pathogenic | Peroxisome biogenesis disorder | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly104Valfs*22) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 10408779, 21031596, 31831025). This variant is present in population databases (rs61753209, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with PEX6-related disorders (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 499109). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001384062 | SCV002600550 | likely pathogenic | Peroxisome biogenesis disorder | 2022-10-18 | criteria provided, single submitter | clinical testing | Variant summary: PEX6 c.311delG (p.Gly104ValfsX22) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.8e-05 in 112824 control chromosomes (gnomAD and publication data). c.311delG has been reported in the literature in at least one compound heterozygous individual affected with Zellweger Syndrome (Ebberink_2010). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as pathogenic (n=3) and likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV003471955 | SCV004201521 | pathogenic | Heimler syndrome 2 | 2023-10-21 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001834884 | SCV002077352 | pathogenic | Zellweger spectrum disorders | 2021-02-01 | no assertion criteria provided | clinical testing |